According to a story from Rocket News, the class of drugs known for their “gene silencing” mechanism of action appear to be effective in treating porphyria, a rare disease that can leave patients in agonizing pain. One patient who experienced the life changing impact of these drugs is Sue Burrell of Norfolk, VA. She has a form called acute intermittent porphyria and she claimed that the attacks of pain were worse than childbirth. The only true relief that she has found was with gene silencing drugs.
Porphyria is a group of diseases which are most characterized by the accumulation of porphyrins in the body, which can cause harm to the skin and nervous system. These genetic inherited diseases are either acute or chronic in form and are caused by mutations that cause a deficiency of a certain enzyme that normally processes porphyrins. Acute intermittent porphyria is the most common form in which symptoms appear rapidly and in distinct episodes. An attack can be triggered by a variety of drugs, alcohol, smoking, stress, fasting, or hormonal changes. Symptoms include severe abdominal pain, convulsions, sensory changes, muscle weakness, hallucinations, anxiety, confusion, and irritability. A severe acute porphyria attack is a medical emergency and someone experiencing a serious attack should be taken to the hospital immediately. To learn more about porphyria, click here.
A Game Changer for Porphyria?
Sue had been experiencing pain for nearly a decade because of her porphyria; her sister was even more severely affected and spent two years in the hospital because of her symptoms. Thankfully, treatment with gene silencing drugs has finally caused Sue’s pain to subside. A clinical trial of 94 patients saw a reduction in severe attacks by 74 percent and half of the patients experienced no attacks that were serious enough to require hospitalization. The drug used in this study was called givosiran.
Gene silencing drugs are somewhat similar to gene therapy, but they do not alter or replace the genetic material itself. Instead, these drugs intervene in the instructions that the genes send to the cell.
It is possible that givosiran and other gene silencing therapies could be useful in other diseases as well. A similar approach could be useful for Huntington’s disease and it could also be used as an alternative to statins for reducing cholesterol.